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Article

Functional characterization of naturally occurring pathogenic mutations in the human leptin receptor.

Endocrinology - 1 Dec 2008

Kimber Wendy, Peelman Frank, Prieur Xavier, Wangensteen Teresia, O'Rahilly Stephen, Tavernier Jan, Farooqi I Sadaf

Abstract excerpt

We have recently reported the first naturally occurring missense mutations in the leptin receptor (LR) in patients with severe obesity. We have examined the molecular mechanisms by which these extracellular domain mutations disrupt LR signaling. The Ala409Glu mutant receptor is expressed at the cell surface, binds leptin normally but fails to signal to downstream pathways. A409 is present on the surface-exposed...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18703626
DOI: 10.1210/en.2008-0544

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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